Lista de obras - Graham Sinclair - Dominio Público Uruguay

A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

article

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

artículo científico publicado en 2017

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

artículo científico publicado en 2016

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

artículo científico publicado en 2014

Acute Shoshin beriberi syndrome immediately post-kidney transplant with rapid recovery after thiamine administration

scientific article published on 24 May 2019

Acylcarnitine profile in thyroid disease.

artículo científico publicado en 2012

Atypical cerebral palsy: genomics analysis enables precision medicine

scientific article published on 13 December 2018

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

artículo científico publicado en 2010

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

artículo científico

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

artículo científico publicado en 2011

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

artículo científico publicado en 2015

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing

artículo científico publicado en 2013

Enhanced interpretation of newborn screening results without analyte cutoff values.

artículo científico publicado en 2012

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

artículo científico publicado en 2011

Exome Sequencing and the Management of Neurometabolic Disorders.

artículo científico publicado en 2016

Fish odour syndrome.

artículo científico publicado en 2011

Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease

artículo científico publicado en 2006

Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts

artículo científico publicado en 2011

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease

artículo científico publicado en 2012

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

artículo científico

Heparin cofactor II–thrombin complex in MPS I: A biomarker of MPS disease

artículo científico publicado en 2006

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

scientific article published on 03 June 2008

Heterologous Expression and Characterization of a Rare Gaucher Disease Mutation (c.481C > T) from a Canadian Aboriginal Population Using Archival Tissue Samples ⬇️

artículo científico publicado el 1 de noviembre de 2001

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

artículo científico publicado en 2011

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

artículo científico publicado en 2012

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

scientific article published on 13 February 2014

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

artículo científico publicado en 2017

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.

artículo científico publicado en 2017

Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: Clinical and biochemical insights from infant rats

artículo científico publicado en 2011

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

artículo científico publicado en 2018

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency

artículo científico publicado en 2016

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy

scientific article published on 01 October 2019

Secretion of human glucocerebrosidase from stable transformed insect cells using native signal sequences

artículo científico publicado en 2006

Serum Betaine and Dimethylglycine Are Higher in South Asian Compared with European Pregnant Women in Canada, with Betaine and Total Homocysteine Inversely Associated in Early and Midpregnancy, Independent of Ethnicity

artículo científico publicado en 2019

Synonymous codon usage bias and the expression of human glucocerebrosidase in the methylotrophic yeast, Pichia pastoris

artículo científico publicado en 2002

The genotypic and phenotypic spectrum of PIGA deficiency

artículo científico publicado en 2015

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation

artículo científico publicado en 2018

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

artículo científico publicado en 2009

The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report

artículo científico publicado en 2012

Treatment of intractable epilepsy in a female with SLC6A8 deficiency

artículo científico publicado en 2010

Lista de obras de Graham Sinclair

A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset

Acute Shoshin beriberi syndrome immediately post-kidney transplant with rapid recovery after thiamine administration

Acylcarnitine profile in thyroid disease.

Atypical cerebral palsy: genomics analysis enables precision medicine

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut

Carnitine palmitoyltransferase I and sudden unexpected infant death in British Columbia First Nations

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing

Enhanced interpretation of newborn screening results without analyte cutoff values.

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

Exome Sequencing and the Management of Neurometabolic Disorders.

Fish odour syndrome.

Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease

Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

Heparin cofactor II–thrombin complex in MPS I: A biomarker of MPS disease

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

Heterologous Expression and Characterization of a Rare Gaucher Disease Mutation (c.481C &gt; T) from a Canadian Aboriginal Population Using Archival Tissue Samples ⬇️

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.

Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: Clinical and biochemical insights from infant rats

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency

Reference intervals for serum total vitamin B12 and holotranscobalamin concentrations and their change points with methylmalonic acid concentration to assess vitamin B12 status during early and mid-pregnancy

Secretion of human glucocerebrosidase from stable transformed insect cells using native signal sequences

Serum Betaine and Dimethylglycine Are Higher in South Asian Compared with European Pregnant Women in Canada, with Betaine and Total Homocysteine Inversely Associated in Early and Midpregnancy, Independent of Ethnicity

Synonymous codon usage bias and the expression of human glucocerebrosidase in the methylotrophic yeast, Pichia pastoris

The genotypic and phenotypic spectrum of PIGA deficiency

The p.P479L variant in CPT1A is associated with infectious disease in a BC First Nation

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report

Treatment of intractable epilepsy in a female with SLC6A8 deficiency

Heterologous Expression and Characterization of a Rare Gaucher Disease Mutation (c.481C > T) from a Canadian Aboriginal Population Using Archival Tissue Samples ⬇️